Diabet. Med. 28, 1337–1342 (2011)
Aims Wolfram syndrome, also known as DIDMOAD, is a relatively rare inherited neurodegenerative disorder, first evident in childhood as an association of ...juvenile‐onset diabetes mellitus and optic atrophy, followed by diabetes insipidus and deafness. The aim of the study was to examine the clinical profile of patients with DIDMOAD syndrome presenting to a tertiary care hospital in north India.
Methods Clinical presentation of juvenile‐onset diabetes mellitus fulfilling the diagnosis of Wolfram syndrome was studied using a prepared standardized form.
Results Subjects with juvenile‐onset non‐autoimmune diabetes mellitus attending the diabetic clinic at a tertiary care centre in north India were followed for 10 years and a diagnosis of fully developed Wolfram syndrome was confirmed in seven individuals. The series consisted of five male and two female patients with a mean age of 17.5 ± 7.34 years. Two subjects had consanguinity and none had any other family member affected. Optic atrophy was present in all, sensorineural hearing loss in 4/7, central diabetes insipidus in 4/7 and nephrogenic diabetes insipidus in 2/7 subjects. The new associations found were: spastic myoclonus, short stature with pancreatic malabsorption, nephrogenic diabetes insipidus, cyanotic heart disease and choledocholithiasis with cholangitis. Genetic analysis revealed mutation in exon 8 of the WFS1 gene in all the cases studied.
Conclusions The present clinical series of Wolfram syndrome reveals a varied clinical presentation of the syndrome and some new associations.
In this article, a novel collocation method is developed based on Gegenbauer wavelets together with the quasi‐linearization technique to facilitate the solution of population growth model of ...fractional order in a closed system. The operational matrices of fractional order integration are obtained via block‐pulse functions. The obtained matrices are employed to transform the given time‐fractional population growth model into a non‐linear system of algebraic equations. Then, the quasi‐linearization technique is invoked to convert the underlying equations to a linear system of equations. The performance and accuracy of the proposed method is elucidated by a presenting a comparison with some numerical methods existing in the open literature. The numerical outcomes shows that the present method is more efficient than the existing ones.
This paper presents novel criteria for investigating the oscillatory behavior of even-order neutral differential equations. By employing a comparative approach, we established the oscillation ...properties of the studied equation through comparisons with well-understood first-order equations with known oscillatory behavior. The findings of this study introduce fresh perspectives and enrich the existing body of oscillation criteria found in the literature. To illustrate the practical application of our results, we provide an illustrative example.
The goal of this research is to provide an effective technique for finding approximate solutions to the Fredholm integral problems of second kind using the Fibonacci Wavelet. To approximate the ...problem, Fibonacci wavelet collocation technique is employed. The Fredholm integral equations are transformed into algebraic equations having unknown Fibonacci coefficients. The convergence analysis and error estimation of the Fibonacci wavelet is briefly discussed. The results obtained by the current methodology are shown with the help of tables and graphs. To demonstrate the novelty of the current technique the outcomes are compared with Hermite cubic spline. Additionally, the comparison of exact and approximate values shows the precision, adaptability, and resilience of the suggested numerical approach.
The image formula of the incomplete H-functions is derived in this paper by using the Srivastava-Luo-Raina M-Transform. Also, we obtained the image formulae of some useful and important cases of ...incomplete H-function. The results derived in this paper are in general form and several known and new results can be obtained by giving particular values to the parameters involved in the main results.
We propose a novel sensitivity based approach that predicts and explains the accuracy of material parameter identification for a composite plate using the Projected Finite Element Update Method. A ...typical experiment using the Projected Finite Element Update Method technique involves a plate specimen held at 3 or 4 supports and bent under the application of a point load. Two‐Dimensional Digital Image Correlation is used to measure the pseudo displacements resulting from the projection of out‐of‐plane deflection of the plate onto the image plane. A cost function relating the projected numerical and experimental displacement fields is then minimised to obtain the material parameters. It is shown that the contribution of a specific material parameter in the observed displacement field influences the accuracy of its identification. The contributions from material parameters are first quantified in terms of sensitivity criterion that may be tailored by changing the elements of test configuration such as location of supports, the load application point, and the specimen geometry. Several test configurations are designed by maximising the sensitivities corresponding to individual material parameters. The relevance of proposed sensitivity criterion in these configurations is then validated through material identification in simulated experiments with added Gaussian noise. Finally, a thin CFRP plate is tested under these configurations to demonstrate the practical use of this approach. The proposed approach helps in robust estimation of the in‐plane elastic moduli from a bent composite plate with a simple Two‐Dimensional Digital Image Correlation setup without requiring measurement of the actual plate deflection or curvatures.
Summary
Background
Genetic variations that affect the structure of the thromboxane A2 receptor (TP receptor) provide insights into the function of this key platelet and vascular receptor, but are ...very rare in unselected populations.
Objectives
To determine the functional consequences of the TP receptor Trp29Cys (W29C) substitution.
Patients/Methods
We performed a detailed phenotypic analysis of an index case (P1) with reduced platelet aggregation and secretion responses to TP receptor pathway activators, and a heterozygous TP receptor W29C substitution. An analysis of the variant W29C TP receptor expressed in heterologous cells was performed.
Results
Total TP receptor expression in platelets from P1 was similar to that of controls, but there was reduced maximum binding and reduced affinity of binding to the TP receptor antagonist 3HSQ29548. HEK293 cells transfected with W29C TP receptor cDNA showed similar total TP receptor expression to wild‐type (WT) controls. However, the TP receptor agonist U46619 was less potent at inducing rises in cytosolic free Ca2+ in HEK293 cells expressing the W29C TP receptor than in WT controls, indicating reduced receptor function. Immunofluorescence microscopy and cell surface ELISA showed intracellular retention and reduced cell surface expression of the W29C TP receptor in HEK293 cells. Consistent with the platelet phenotype, both maximum binding and the affinity of binding of 3HSQ29548 to the W29C TP receptor were reduced compared to WT controls.
Conclusion
These findings extend the phenotypic description of the very rare disorder TP receptor deficiency, and show that the W29C substitution reduces TP receptor function by reducing surface receptor expression and by disrupting ligand binding.
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